S33* (p.Ser33Ter) variant of CHEK2 (O96017)
S33* (p.Ser33Ter) in CHEK2 (O96017) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
S33* (p.Ser33Ter) variant details
- p.Ser33Ter
- rs2054331180
- ClinGen CA411091512
- ClinVar RCV001236386
- TOPMed rs2054331180
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.08
- MetaLR 0.74
- MetaSVM 0.11
- PolyPhen-2 0.82
- SIFT 0.00
- MutPred 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)